Results 221 to 230 of about 2,310,068 (246)

Nonhepatic Hyperammonemic Encephalopathy: An Unmasked Urea Cycle Disorder in the Setting of Late Gastric Bypass Complication. [PDF]

ACG Case Rep J
Zeghlache R, Samardzic T, Norman K.
europepmc   +1 more source

Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals. [PDF]

Orphanet J Rare Dis
Stepien KM, McSweeney M, Ochoa-Ferraro A, Vara R, Riley P, Smith M.   +5 more
europepmc   +1 more source

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models. [PDF]

J Inherit Metab Dis
Ramosaj A, Borsuk M, Underhaug J, Mathis D, Matsumoto S, Keogh A, Banz V, Pandey AV, Gougeard N, Rubio V, Martinez A, Allegri G, Poms M, Thöny B, Häberle J, Laemmle A.   +15 more
europepmc   +1 more source

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals. [PDF]

J Inherit Metab Dis
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM, E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management.   +6 more
europepmc   +1 more source

Hierarchical Tricarboxylic Acid Cycle Regulation by Hepatocyte Arginase 2 Links the Urea Cycle to Oxidative Metabolism [PDF]

Cell Metabolism
Urea cycle impairment and its relationship to obesity and inflammation remained elusive, partly due to the dramatic clinical presentation of classical urea cycle defects.
Yiming Zhang, Brian J DeBosch, Cassandra B Higgins   +2 more
exaly   +2 more sources

The Incidence of Urea Cycle Disorders

Molecular Genetics and Metabolism, 2013
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from
Stefan Kolker, Marshall Summar, Brian Kirmse   +2 more
exaly   +2 more sources

A Longitudinal Study of Urea Cycle Disorders

Molecular Genetics and Metabolism, 2014
The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of
Mark L Batshaw, Marshall Summar, Mendel Tuchman   +2 more
exaly   +2 more sources

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Urea Cycle Activation Triggered by Host-Microbiota Maladaptation Driving Colorectal Tumorigenesis

Cell Metabolism, 2023
Jing-Yuan Fang, Linhua Ji, Baoqin Xuan
exaly